Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children | ||
| Journal of Pediatric Perspectives | ||
| مقاله 5، دوره 5، شماره 10 - شماره پیاپی 46، دی 2017، صفحه 5839-5842 اصل مقاله (139.02 K) | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2017.25461.2163 | ||
| نویسندگان | ||
| Nadia El Idrissi Slitine1؛ Fatiha Bennaoui* 1؛ Ouidad Louachama1؛ Leila Habibi1؛ Naima Fdil2؛ Abdelali Tali3؛ Laila Chabaa4؛ Fadl Mrabih Rabou Maoulainine1 | ||
| 1Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco. | ||
| 2Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco. | ||
| 3Biochemistry Department, School of Medicine, CADI AYYAD University, Morocco. | ||
| 4Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco AND Biochemistry Department, School of medicine ,CADI AYYAD University, Morocco. | ||
| چکیده | ||
| Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration of | ||
| کلیدواژهها | ||
| Children؛ hyperchylomicronemia؛ LPL gene؛ Mutation؛ Pancreatitis | ||
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